Hypertrophic Cardiomyopathy with Restrictive Phenotype and Myocardial Crypts

Author(s):  
Alessandro Cannavale ◽  
Karen G. Ordovás ◽  
Eduardo J. Rame ◽  
Charles B. Higgins
2012 ◽  
Vol 5 (4) ◽  
pp. 441-447 ◽  
Author(s):  
Martin S. Maron ◽  
Ethan J. Rowin ◽  
David Lin ◽  
Evan Appelbaum ◽  
Raymond H. Chan ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Danny A. J. P. van de Sande ◽  
Jan Hoogsteen ◽  
Luc J. H. J. Theunissen

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR) is used to characterize left ventricular morphology with great precision in patients with HCM and it identifies unique structural abnormalities in patients with HCM. We present a case of a 56-year-old man who had positive family history of HCM who was a carrier of the genetic MYH-7 2770 G > C, exon 23 mutation. Transthoracic echocardiography showed thickening of the interventricular septum (16 mm) and in particular the basal septum. CMR confirmed the diagnosis of HCM in the anteroseptal myocardium with a thickness of 23 mm and also revealed large and deep myocardial crypts in the anterior wall. These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. So in conclusion, this case reveals an uncommon finding of a myocardial crypt at an unusual myocardial site with the unusual morphology in a patient with genotypic and phenotypic expression of hypertrophic cardiomyopathy.


2021 ◽  
Vol 11 (4) ◽  
pp. 44-51
Author(s):  
A. A. Malov ◽  
R. K. Dzhordzhikiya ◽  
A. I. Abushayev

Introduction. Phenotype variants of left ventricular (LV) remodeling in patients with hypertrophic cardiomyopathy (HCM) are often associated with abnormalities of the mitral valve (MV), myocardiumstructure, contributing to the development of medium and/or subaortic obstruction. Itcauses the detail visualization of morphological obstruction substrates, tissue characteristics.Aim. To evaluate the possibilities of magnetic resonance imaging (MRI) in the diagnosis of various forms of HCM and combined abnormalities.Materials and methods. 75 patients with suspected HCM were examined. For verification, all patients underwentMRI using protocol: short-pulse T1w-TSE/ T2w-TSE (STIR), gradient echo in cine (CINE), T1-weighted post-contrast images (Inversion Recovery IR-MDE). Results. Patients classified into 4 types according to the anatomical principle (Wiggle E.D. et al., 1985). In addition to the most frequent forms affecting the interventricular septum (IVS) — 64 patients, unusual forms covering the apical zones and papillary muscles — 11 patients. The majority of patients were diagnosed with abnormalities of MV, divided into abnormalities of the number and position of papillary muscles, as well as the ratio of chords and muscles. Myocardial crypts were diagnosed in 12 patients, some combined with areas of non-compact myocardium. Post-contrast visualization using the delayed contrast technique allowed differentiating HCM with accumulation diseases, excluding cavity thrombosis, and evaluating the severity of myocardial fibrosis.Conclusions. MRI allows to estimate in details anatomic picture of LV remodeling, to diagnose features of the mitral valve, tissue characteristics that allows to stratify risk of sudden death, classify the HCM phenotype form and to determine the volume of surgical intervention.


2013 ◽  
Vol 89 (1056) ◽  
pp. 610-611
Author(s):  
Edward T D Hoey ◽  
Jun K Teoh ◽  
Vijayabhaskar Pakala ◽  
Arul Ganeshan

Author(s):  
Martin S. Maron ◽  
Ethan J. Rowin ◽  
David Lin ◽  
Evan Appelbaum ◽  
C. Michael Gibson ◽  
...  

2011 ◽  
Vol 57 (14) ◽  
pp. E191 ◽  
Author(s):  
Martin S. Maron ◽  
Ethan Rowin ◽  
David Lin ◽  
Evan Appelbaum ◽  
C. Michael Gibson ◽  
...  

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